Diagnosis of Pachyonychia Congenita

Doctors usually diagnose PC by:

• Completing a physical exam, including examination of the skin and nails.
• Asking about the family and medical history, as many cases of PC are inherited.
• Ordering a genetic test. By identifying the disease mutation, a genetic test can rule out other conditions with similar symptoms and confirm that a person has PC. A genetic test may also provide a clearer picture of what to expect, as symptoms of PC differ based on the mutation.

Treatment of Pachyonychia Congenita

There is no cure and there are no specific therapies for PC. The main goal of treatment is relieving the pain by most people with the condition.

Your doctor may recommend the following treatments for calluses:

• Thinning the calluses. Regular grooming of the feet is a mainstay of treatment. It is important not to trim too aggressively, as overly thinning the calluses can increase the pain. Conversely, trimming regularly, as needed, is important because overly thick calluses can also increase the pain.
  • Physical abrasion, such as by paring or filing the callused areas, is the most common approach. Soaking the skin prior to abrading is helpful for some people. While many people pare or file their calluses themselves, others see a podiatrist, a medical professional who specializes in caring for the feet.
  • Oral retinoids, which are related to vitamin A, can thin calluses, but they may not decrease the pain, and in some cases they increase it. If a doctor prescribes these, he or she will carefully monitor the dosage and duration of treatment.
• Moisturizing creams or lotions. Moisturizers can provide relief by softening the skin and preventing cracks.
• Over-the-counter or prescribed anti-inflammatory and pain medications. These may help temporarily alleviate pain and are sometimes taken prior to engaging in physical activity to “get ahead” of the anticipated pain.
• Special orthotics or insoles. These can redistribute the weight on your feet and provide relief from pain. In severe cases, a person may need a cane, crutches, or a wheelchair.
• Nails and cysts. Your doctor may recommend the following treatments for thickened nails and cysts:
• Thickened nails.
  • Regular trimming. Nails are not usually painful, but they can become so if they become infected or broken.
  • Bleach baths. Routinely bathing your nails and feet in mild bleach solutions can help prevent infections. You should not use this treatment without first talking to your doctor.
  • Oral antibiotic or antifungal medications. These may be needed if infections develop.
  • Surgery to remove especially troublesome nails.
• Cysts. These may need to be drained or surgically removed. Your doctor may prescribe antibiotics if cysts become infected. Antiseptic cleansers may help prevent flare-ups.

Who Treats Pachyonychia Congenita?

Dermatologists, who specialize in skin disorders, usually treat PC. Other health care professionals who may be involved in your care include: 

• Clinical geneticists, who diagnose and treat children and adults with genetic disorders.
• Mental health professionals, who can help you cope with difficulties in the home and workplace that may result from having the disorder.
• Podiatrists, medical specialists who provide care for the feet and lower legs.
• Primary care doctors, such as family physicians, internal medicine specialists, and pediatricians, who coordinate care between the different health providers and treat other problems as they arise.